Variant Results

or

or

Results for "FBXL20"

Variant Events: 25

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

FBXL20

7-0233-003

chr17:
37426541-37426546

AATCTC

A

intronic

De novo

-

-

Trost2022 G

FBXL20

3-0371-000

chr17:
37432956-37432956

C

G

intronic

De novo

-

-

Trost2022 G

FBXL20

1-0627-007

chr17:
37409163-37409163

G

A

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

FBXL20

MSSNG00437-003

chr17:
37422682-37422682

A

G

intronic

De novo

-

-

Trost2022 G

FBXL20

7-0233-003

chr17:
37426530-37426535

CTCACG

C

intronic

De novo

-

-

Trost2022 G

FBXL20

7-0291-003A

chr17:
37415193-37415193

A

G

UTR3

De novo

-

-

Trost2022 G

FBXL20

3-0713-000

chr17:
37420950-37420950

T

C

intronic

De novo

-

-

Trost2022 G

FBXL20

F5996-1

chr17:
37431230-37431230

G

A

exonic

De novo

nonsynonymous SNV

NM_001184906
NM_032875

c.C724T
c.C820T

p.R242W
p.R274W

17.25

Montenegro2019 E

FBXL20

MSSNG00331-003

chr17:
37482660-37482660

C

G

intronic

De novo

-

-

Trost2022 G

FBXL20

AU2687301

chr17:
37499600-37499600

T

C

intronic

De novo

-

-

Trost2022 G

FBXL20

MSSNG00369-005

chr17:
37481121-37481121

A

G

intronic

De novo

-

-

Trost2022 G

FBXL20

2-1818-003

chr17:
37482549-37482549

C

T

intronic

De novo

-

-

Trost2022 G

FBXL20

74-0265

chr17:
37460702-37460702

G

A

intronic

De novo

-

-

Michaelson2012 G

FBXL20

MSSNG00127-004

chr17:
37452596-37452596

G

A

intronic

De novo

-

-

Trost2022 G

FBXL20

4-0062-003

chr17:
37480251-37480251

T

TTA

intronic

De novo

-

-

Trost2022 G

FBXL20

SP0123857

chr17:
37438943-37438943

G

A

intronic

De novo

-

Trost2022 G

FBXL20

MSSNG00384-003

chr17:
37441252-37441252

G

C

intronic

De novo

-

-

Trost2022 G

FBXL20

G01_GEA538HI

chr17:
37558255-37558255

C

T

upstream

De novo

-

-

Fu2022 E

FBXL20

SP0040392

chr17:
37557991-37557991

A

T

upstream

De novo

-

-

Trost2022 G

FBXL20

1031

chr17:
37556686-37556686

A

G

intronic

De novo

-

-

Trost2022 G

FBXL20

AU2221301

chr17:
37556964-37556964

C

T

intronic

De novo

-

-

Trost2022 G

FBXL20

MSSNG00049-003

chr17:
37520551-37520551

T

C

intronic

De novo

-

-

Trost2022 G

FBXL20

2-1243-003

chr17:
37527279-37527279

C

G

intronic

De novo

-

-

Trost2022 G

FBXL20

1-0469-005

chr17:
37450331-37450331

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

FBXL20

7-0068-003

chr17:
37534371-37534371

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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